Canonical Allele Identifier: CA2611973390
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI

Linked Data

gnomAD v4: 11-2148937-TCCTGCACACCCCATCCCTGAAGTTGAGGCTGCTCTCAGGAGGCTTC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2148945_2148990del , CM000673.2:g.2148945_2148990del GRCh38
NC_000011.9:g.2170175_2170220del , CM000673.1:g.2170175_2170220del GRCh37
NC_000011.8:g.2126751_2126796del NCBI36
NG_008849.1:g.5621_5666del
NG_050578.1:g.17227_17272del

Transcript Alleles

HGVS Amino-acid change
ENST00000481781.3:c.-249+143_-249+188del (IGF2) ENSP00000511998.1:n.-249+143_-249+188del
ENST00000643349.2:c.254+143_254+188del ENSP00000495715.1:n.254+143_254+188del
ENST00000695541.1:c.-249+143_-249+188del (IGF2) ENSP00000511997.1:n.-249+143_-249+188del
ENST00000481781.2:n.345+143_345+188del
ENST00000643349.1:c.254+143_254+188del ENSP00000495715.1:n.254+143_254+188del
ENST00000356578.8:c.407+143_407+188del (INS-IGF2) ENSP00000348986.4:n.407+143_407+188del
ENST00000397270.1:c.407+143_407+188del (INS-IGF2) ENSP00000380440.1:n.407+143_407+188del
ENST00000476874.1:n.433_478del (INS-IGF2)
ENST00000481781.1:n.612+143_612+188del (INS-IGF2)
NM_001007139.5:c.-249+143_-249+188del (IGF2) NP_001007140.2:n.-249+143_-249+188del
NM_001042376.2:c.407+143_407+188del (INS-IGF2) NP_001035835.1:n.407+143_407+188del
NR_003512.3:n.466+143_466+188del (INS-IGF2)
NM_001042376.3:c.407+143_407+188del (INS-IGF2) NP_001035835.1:n.407+143_407+188del
NR_003512.4:n.466+143_466+188del (INS-IGF2)
NM_001007139.6:c.-249+143_-249+188del (IGF2) NP_001007140.2:n.-249+143_-249+188del
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